Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

IFT80

Reviewed July 2008

What is the official name of the IFT80 gene?

The official name of this gene is “intraflagellar transport 80 homolog (Chlamydomonas).”

IFT80 is the gene's official symbol. The IFT80 gene is also known by other names, listed below.

What is the normal function of the IFT80 gene?

The IFT80 gene is part of a family called intraflagellar transport homologs. Genes in this family provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia also play an important role in the perception of sensory input (such as sight, hearing, and smell).

The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport. This process is essential for the assembly and maintenance of these cell structures. The IFT80 protein is part of a larger group of related proteins (a protein complex) called IFT complex B. During intraflagellar transport, this complex helps carry materials from the base to the tip of cilia.

Does the IFT80 gene share characteristics with other genes?

The IFT80 gene belongs to a family of genes called IFT (intraflagellar transport homologs).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the IFT80 gene related to health conditions?

asphyxiating thoracic dystrophy - caused by mutations in the IFT80 gene

At least three mutations in the IFT80 gene have been identified in families with asphyxiating thoracic dystrophy. Two of these mutations change single protein building blocks (amino acids) in the IFT80 protein, and the third mutation deletes one amino acid from the protein. Researchers believe that each of these mutations disrupts the normal function of the IFT80 protein and impairs its ability to participate in intraflagellar transport. It is unclear, however, how mutations in the IFT80 gene lead to skeletal abnormalities, kidney problems, and the other features of asphyxiating thoracic dystrophy.

Where is the IFT80 gene located?

Cytogenetic Location: 3q25.33

Molecular Location on chromosome 3: base pairs 159,974,773 to 160,117,319

The IFT80 gene is located on the long (q) arm of chromosome 3 at position 25.33.

The IFT80 gene is located on the long (q) arm of chromosome 3 at position 25.33.

More precisely, the IFT80 gene is located from base pair 159,974,773 to base pair 160,117,319 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about IFT80?

You and your healthcare professional may find the following resources about IFT80 helpful.

  • Educational resources - Information pages
    Molecular Cell Biology (fourth edition, 2000): Cilia and Flagella: Structure and Movement (http://www.ncbi.nlm.nih.gov/books/NBK21698/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for IFT80 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=57560%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(IFT80%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/611177)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/57560)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=57560)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=29262)

What other names do people use for the IFT80 gene or gene products?

  • ATD2
  • IFT80_HUMAN
  • KIAA1374
  • MGC126543
  • WDR56
  • WD repeat-containing protein 56
  • WD repeat domain 56

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding IFT80?

acids ; amino acid ; cell ; domain ; gene ; homologs ; kidney ; mutation ; perception ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. Epub 2007 Apr 29. (http://www.ncbi.nlm.nih.gov/pubmed/17468754?dopt=Abstract)
  • Blacque OE, Cevik S, Kaplan OI. Intraflagellar transport: from molecular characterisation to mechanism. Front Biosci. 2008 Jan 1;13:2633-52. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17981739?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/57560)
  • Rosenbaum JL, Witman GB. Intraflagellar transport. Nat Rev Mol Cell Biol. 2002 Nov;3(11):813-25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12415299?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2008
Published: May 20, 2013